An observational study in Rare Genetic Disease, sponsored by Istituto Giannina Gaslini. Recruiting at 1 site in Italy. Open to participants aged 0 Days to 17 Years. Per ClinicalTrials.gov, last updated 2026-10-16.
Sponsored by Istituto Giannina Gaslini · Observational
Among 64 studies in Genetic Diseases, Inborn with a site in Italy — 21 open to participants now, 25 under way, 7 of them phase 3. Genetic Diseases, Inborn · Italy.
Among the 64 studies in Genetic Diseases, Inborn with a site in Italy, this one is the 4th largest by planned enrollment of the 18 observational ones that give a count, is one of 8 that started in 2021, is one of 18 observational ones, reaches primary completion later than 7 of the 24 other live ones, and was the 63rd registered.
583 studies on the registry are indexed under Genetic Diseases, Inborn; 157 are open to participants now.
Browse Genetic Diseases, Inborn studies →21 of the 64 studies in Genetic Diseases, Inborn with a site in Italy are open now. Recruiting first, the newest first:
Avidity Biosciences, Inc. · Sites in Italy, Australia, Belgium and 7 more countries
Ages 7–16 · Men only
BioMarin Pharmaceutical · Sites in Italy, United States, Australia and 6 more countries
Ages 2–17
IRCCS Eugenio Medea · Sites in Italy
Ages 11–39
CSL Behring · Sites in Italy, United States, Belgium and 4 more countries
Ages 18+
Imagine Institute · Sites in Italy, Austria, Belgium and 8 more countries
A study can be open while its sites in Italy have not opened yet or have stopped. Only those recruiting at a site in Italy →
Of the 120 Genetic Diseases, Inborn studies recruiting now, 60 (50%) set no upper age limit and 45 (38%) stop at 75 or younger; 85 take children under 18; 28 take healthy volunteers.
This study: 0 Days to 17 Years · all sexes.
The full table on the hub →This tab as a report to print or save as PDF → With an account.
64 studies; the count open now beside each. This study's row is marked.
A study in two phases is counted once above. Listed by phase, each with its combined phases: Phase 1 3 · Phase 2 18 · Phase 3 25
First in 1997; this study’s year is marked. 8 started in 2021.
By drug class, each counting the studies that test any of its medicines:
This study's planned enrollment of 1,950 is above the median of 151 across 239 observational studies indexed under Genetic Diseases, Inborn.
Median enrollment 74 across the 46 interventional studies, 186 across the 18 observational. Of the 37 that completed or were terminated, 21 (57%) have results posted.
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45 of 64 have an industry lead sponsor. The 10 most frequent:
Istituto Giannina Gaslini is the lead sponsor of 54 studies on the registry; 36 are open to participants now.
Istituto Giannina Gaslini has 2 studies filed under Genetic Diseases, Inborn — fewer than ten, so there is no comparison to draw.
6 of the studies in Genetic Diseases, Inborn with a site in Italy that are under way reach primary completion within a year, 2 of them phase 3. Phase 3 first, then by date:
| Study | Primary completion |
|---|---|
| NCT05477563Phase 3Vertex Pharmaceuticals IncorporatedEvaluation of Efficacy and Safety of a Single Dose of CTX001 in Participants With Transfusion-Dependent β-Thalassemia and Severe Sickle Cell Disease | 2027-06-09 |
| NCT05356195Phase 3Vertex Pharmaceuticals IncorporatedEvaluation of Safety and Efficacy of CTX001 in Pediatric Participants With Transfusion-Dependent β-Thalassemia (TDT) | 2027-11-14 |
| NCT07884227Istituto Giannina GasliniMulti-Omics Genetic Investigation Strategies to Enhance the Diagnostic Workflow for Rare Diseases | 2026-12-31 |
| NCT07877688Istituto Giannina GasliniExome and Genome Sequencing of DNA Samples, as Required by Specific Research Projects and the Diagnostic Needs of the Gaslini Institute, to Be Performed Within the Framework of the "Joint Genomic Lab" Established Between IGG and IIT | 2026-12-31 |
| NCT06185764Vertex Pharmaceuticals IncorporatedA Phase 1/2 Study of VX-670 in Adult Participants With Myotonic Dystrophy 1 (DM1) | 2027-02-02 |
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Among the 64 studies in Genetic Diseases, Inborn with a site in Italy, from their registry updates:
This tab as a report to print or save as PDF → With an account.
The study involves two centers, only one of which recruits clinical cases. It is funded by the two participating centers according to their respective areas of expertise, in particular through research projects that will make use of sequencing services at IIT, as well as through IGG's institutional research funding and clinical diagnostic budget.
The study is therefore a single-center, translational, open-label cohort study.
Biological samples from patients and their parents selected to undergo whole-exome sequencing (WES) or whole-genome sequencing (WGS) will be collected and stored within the respective Clinical Units of the Giannina Gaslini Institute, specifically in the DNA Biobank and its associated repositories. Both blood sampling to obtain DNA samples that are not yet available and the use of existing DNA samples will be subject to the informed consent of the individuals concerned.
Appropriate DNA aliquots will be sent to IIT for sequencing after the samples have been pseudonymized using specific internal codes assigned by each IGG Clinical Unit. Any excess DNA remaining after completion of the sequencing procedures at IIT will be returned to the Gaslini Institute Biobank. Re-identification of the data associated with samples submitted for advanced genetic testing will only be possible by personnel designated by the heads of the respective Clinical Units who were responsible for sample collection. The same code, once linked to the corresponding Phenotips identifier, will be used to manage clinical and phenotypic data in the database to be established.
The genetic data obtained will be stored at the IGG-IIT Joint Genomics Lab in raw format (FASTQ) and made available to the IGG Bioinformatics Unit, which will process them into analysis-ready formats (BAM/CRAM/VCF) and compile the results into a report to be forwarded to the designated contacts in each respective clinical/genetics unit. At these units, the sample code will be decoded to enable communication of any resulting diagnosis to the referring clinicians and the family.
The total number of subjects expected to be enrolled is approximately 1,600 and 350 samples for WES and WGS, respectively, over the 48-month study period.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Establishment of a Clinical and Genetic Database of Patients with Undiagnosed Rare Genetic Diseases
Database of Clinical and Genetic Data from Patients with Undiagnosed Rare Genetic Diseases (RGDs)
Time frame: Within 48 months from study initiation
Increase in the Diagnostic Rate of Complex Rare Genetic Diseases (RGDs)
Increase in the Diagnostic Rate of Complex Rare Genetic Diseases (RGDs)
Time frame: Within 48 months from study initiation
Started Oct 2021 (actual). Primary completion is estimated for Dec 2026, 62 months after the start.
Of 94 non-industry observational studies under Genetic Diseases, Inborn, half reached primary completion within 124 months of starting (the median), counting those still running; a quarter within 46. This study's planned 62 months is below that.
Counting every sponsor, half of 128 studies reached it within 110 months; a quarter within 46 and three quarters within 193.
How these figures are worked out, and which studies are left out of them.
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
No contact was published for this record. The registry link below has the sponsor’s details.
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Istituto Giannina Gaslini